NM_000493.4(COL10A1):c.1851_1852insTCT (p.Asn617_Gly618insSer) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 20, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002848239.3

Allele description [Variation Report for NM_000493.4(COL10A1):c.1851_1852insTCT (p.Asn617_Gly618insSer)]

NM_000493.4(COL10A1):c.1851_1852insTCT (p.Asn617_Gly618insSer)

Genes:

NT5DC1:5'-nucleotidase domain containing 1 [Gene - HGNC]
COL10A1:collagen type X alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

6q22.1

Genomic location:

Preferred name:

NM_000493.4(COL10A1):c.1851_1852insTCT (p.Asn617_Gly618insSer)

HGVS:

NC_000006.12:g.116120265_116120266insGAA
NG_008032.1:g.10869_10870insTCT
NG_021351.1:g.24430_24431insGAA
NG_021351.2:g.24414_24415insGAA
NM_000493.4:c.1851_1852insTCTMANE SELECT
NM_001424106.1:c.1851_1852insTCT
NM_001424107.1:c.1851_1852insTCT
NM_152729.3:c.529+2320_529+2321insGAAMANE SELECT
NP_000484.2:p.Asn617_Gly618insSer
NP_001411035.1:p.Asn617_Gly618insSer
NP_001411036.1:p.Asn617_Gly618insSer
NC_000006.11:g.116441427_116441428insAGA
NC_000006.11:g.116441428_116441429insGAA

Molecular consequence:

NM_000493.4:c.1851_1852insTCT - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001424106.1:c.1851_1852insTCT - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001424107.1:c.1851_1852insTCT - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_152729.3:c.529+2320_529+2321insGAA - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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gi|528189507|gb|KC819738.1|

Nucleotide
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Homo sapiens MAP kinase interacting serine/threonine kinase 1 (MKNK1), transcript variant 2, mRNA
gi|39752688|ref|NM_198973.1|

Nucleotide
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mothers against decapentaplegic homolog 3 isoform 1 [Homo sapiens]
gi|5174513|ref|NP_005893.1|

Protein
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Mus musculus carbonic anhydrase 1, mRNA (cDNA clone MGC:164063 IMAGE:40130709), complete cds
gi|124376423|gb|BC132432.1|

Nucleotide
Homo sapiens mitochondrial ribosomal protein S11, mRNA (cDNA clone MGC:22144 IMA...
Homo sapiens mitochondrial ribosomal protein S11, mRNA (cDNA clone MGC:22144 IMAGE:4452949), complete cds
gi|15214710|gb|BC012489.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003230214	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 20, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003230214

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 20, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003230214.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with COL10A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1851_1852insTCT, results in the insertion of 1 amino acid(s) of the COL10A1 protein (p.Asn617_Gly618insSer), but otherwise preserves the integrity of the reading frame.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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